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Article

A case of KAT6A syndrome with a newly discovered mutation in the KAT6A gene, mainly manifested as bone marrow failure syndrome.

Hematology (Amsterdam, Netherlands) - 1 Dec 2023

Ai Qi, Jiang Lihua, Chen Yun, Yao Xiuyun, Yin Jing, Chen Sen

Abstract excerpt

Objective: The clinical and genetic characteristics of a child with inherited bone marrow failure syndrome as prominent clinical manifestations and special facial features were analyzed, and the etiology and mechanism were explored in, combination with clinical practice. Methods: Blood samples and clinical information were collected separately from the proband and their biological parents. The pathogenic variant...

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PMID: 36880793
DOI: 10.1080/16078454.2023.2182159

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